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@proceedings{1316824,
author = {Bonczek, Ondřej and Šerý, Omar and Hloušková, Alena and Lochman, Jan and Izakovičová Hollá, Lydie and Šoukalová, Jana and Štembírek, Jan and Míšek, Ivan and Černochová, Pavlína and Krejčí, Přemysl and Vaněk, Jiří},
booktitle = {XVII. setkání biochemiků a molekulárních biologů},
keywords = {PAX9; tooth agenesis; oligodontia; mutation screening},
language = {eng},
isbn = {978-80-210-8015-7},
title = {Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia},
year = {2015}
}
TY - CONF
ID - 1316824
AU - Bonczek, Ondřej - Šerý, Omar - Hloušková, Alena - Lochman, Jan - Izakovičová Hollá, Lydie - Šoukalová, Jana - Štembírek, Jan - Míšek, Ivan - Černochová, Pavlína - Krejčí, Přemysl - Vaněk, Jiří
PY - 2015
TI - Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia
SN - 9788021080157
KW - PAX9
KW - tooth agenesis
KW - oligodontia
KW - mutation screening
N2 - Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and mesenchyme. These interactions are mediated by more than 350 signaling molecules including mainly transcription factors, growth factors, receptors etc. Synergistic and antagonistic interactions between these molecules may lead to their local activation or inhibition. The aim of our study was to investigate the relationship between PAX9 gene variants and tooth agenesis in the Czech population. The selected regions of PAX9 gene were analyzed by direct sequencing and compared with the reference sequence from the GenBank on-line database (NCBI). We found several novel variants in the PAX9 gene. The newly identified causative g.9527G gt;T mutation is located in intron 2, in the area recognized as the splicing site between exon 2 and intron 2 of the PAX9 gene. The other mutations in the PAX9 gene e.g. insertion g.5100_5101insC (rs11373281) with simultaneous substitution g.5272C>G (rs4904155) in exon 1, and mutation g.10934C gt;T (Gly203Gly, rs61754301) in exon 3 seem to be polymorphisms in the Czech population. We also observed polymorphisms g.10276A gt;G (rs12882923) and g.10289A gt;G (rs12883049) in IVS2 (intervening sequence 2) previously related to tooth agenesis in Polish study (1, 2). We identified a novel g.9527G gt;T mutation in Czech monozygotic twins associated with oligodontia in a family comprising nine members.
ER -
BONCZEK, Ondřej, Omar ŠERÝ, Alena HLOUŠKOVÁ, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Jana ŠOUKALOVÁ, Jan ŠTEMBÍREK, Ivan MÍŠEK, Pavlína ČERNOCHOVÁ, Přemysl KREJČÍ a Jiří VANĚK. Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia. In \textit{XVII. setkání biochemiků a molekulárních biologů}. 2015. ISBN~978-80-210-8015-7.
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